A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review.
Adult
Amniocentesis
/ methods
Chorionic Villi Sampling
/ methods
Clinical Decision-Making
Congenital Abnormalities
/ diagnosis
Female
Genetic Counseling
/ methods
Humans
Needs Assessment
Pregnancy
Prenatal Diagnosis
/ methods
Quality Improvement
Retrospective Studies
State Medicine
/ trends
United Kingdom
/ epidemiology
Exome Sequencing
/ methods
Exome sequencing
prenatal genetic testing
Journal
BJOG : an international journal of obstetrics and gynaecology
ISSN: 1471-0528
Titre abrégé: BJOG
Pays: England
ID NLM: 100935741
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
accepted:
21
09
2020
pubmed:
28
9
2020
medline:
18
5
2021
entrez:
27
9
2020
Statut:
ppublish
Résumé
Studies have shown that prenatal exome sequencing (PES) improves diagnostic yield in cases of fetal structural malformation. We have retrospectively analysed PES cases from two of the largest fetal medicine centres in the UK to determine the impact of results on management of a pregnancy. A retrospective review of clinical case notes. Two tertiary fetal medicine centres. Pregnancies with fetal structural abnormalities referred to clinical genetics via a multidisciplinary team. We retrospectively reviewed the notes of all patients who had undergone PES. DNA samples were obtained via chorionic villus sampling or amniocentesis. Variants were filtered using patient-specific panels and interpreted using American College of Medical Genetics guidelines. A molecular diagnosis was made in 42% (18/43) ongoing pregnancies; of this group, there was a significant management implication in 44% (8/18). A positive result contributed to the decision to terminate a pregnancy in 16% (7/43) of cases. A negative result had a significant impact on management in two cases by affirming the decision to continue pregnancy. We demonstrate that the results of PES can inform pregnancy management. Challenges include variant interpretation with limited phenotype information. These results emphasise the importance of the MDT and collecting phenotype and variant data. As this testing is soon to be widely available, we should look to move beyond diagnostic yield as a measure of the value of PES. Prenatal exome sequencing can aid decision-making in pregnancy management; review ahead of routine implementation in NHS.
Identifiants
pubmed: 32981126
doi: 10.1111/1471-0528.16546
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1012-1019Subventions
Organisme : British Heart Foundation
ID : FS/18/79/33932
Pays : United Kingdom
Organisme : Heart Foundation
ID : 78
Organisme : Heart Foundation
ID : 33932
Organisme : Heart Foundation
ID : 18
Organisme : British Heart Foundation
ID : FS/18/78/33932
Pays : United Kingdom
Informations de copyright
© 2020 John Wiley & Sons Ltd.
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